List of variants in gene combination CAPN3, LOC126862115 reported as likely benign for Autosomal recessive limb-girdle muscular dystrophy type 2A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	rs17592	0.01574
NM_000070.3(CAPN3):c.495C>T (p.Phe165=)	rs1801324	0.00613
NM_000070.3(CAPN3):c.492C>T (p.His164=)	rs746311570	0.00003
NM_000070.3(CAPN3):c.380-15T>C	rs1186700942	0.00001
NM_000070.3(CAPN3):c.396C>T (p.Leu132=)	rs1170844821	0.00001
NM_000070.3(CAPN3):c.402C>T (p.Ala134=)	rs759713838	0.00001
NM_000070.3(CAPN3):c.417C>T (p.Thr139=)	rs2053400365	0.00001
NM_000070.3(CAPN3):c.438C>T (p.Phe146=)	rs1250563056	0.00001
NM_000070.3(CAPN3):c.453T>C (p.His151=)	rs1193719537	0.00001
NM_000070.3(CAPN3):c.480A>T (p.Ala160=)	rs779579276	0.00001
NM_000070.3(CAPN3):c.498+20G>A	rs376337969	0.00001
NM_000070.3(CAPN3):c.380-8G>A	rs1415586798
NM_000070.3(CAPN3):c.381G>T (p.Gly127=)	rs2548255678
NM_000070.3(CAPN3):c.396C>G (p.Leu132=)	rs1170844821
NM_000070.3(CAPN3):c.405T>A (p.Ile135=)	rs568666121
NM_000070.3(CAPN3):c.408C>G (p.Ala136=)	rs775861630
NM_000070.3(CAPN3):c.408C>T (p.Ala136=)	rs775861630
NM_000070.3(CAPN3):c.423C>T (p.Asn141=)	rs2548255764
NM_000070.3(CAPN3):c.435T>C (p.Leu145=)
NM_000070.3(CAPN3):c.444C>A (p.Val148=)	rs2548255811
NM_000070.3(CAPN3):c.450C>T (p.Pro150=)	rs1255302975
NM_000070.3(CAPN3):c.456T>C (p.Asp152=)	rs751448923
NM_000070.3(CAPN3):c.459A>G (p.Gln153=)	rs2141160666
NM_000070.3(CAPN3):c.468C>A (p.Ile156=)	rs143942248
NM_000070.3(CAPN3):c.468C>T (p.Ile156=)	rs143942248
NM_000070.3(CAPN3):c.480A>C (p.Ala160=)	rs779579276
NM_000070.3(CAPN3):c.480A>G (p.Ala160=)	rs779579276
NM_000070.3(CAPN3):c.483G>A (p.Gly161=)	rs1595819807
NM_000070.3(CAPN3):c.498+11G>A	rs1217190023
NM_000070.3(CAPN3):c.498+11G>T	rs1217190023
NM_000070.3(CAPN3):c.498+14A>G	rs2548256020
NM_000070.3(CAPN3):c.498+16T>A	rs539965498
NM_000070.3(CAPN3):c.498+16T>C	rs539965498

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.